Detalhe da pesquisa
1.
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
J Med Genet
; 57(4): 258-268, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31586946
2.
Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases.
J Mol Diagn
; 23(1): 71-90, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33223419
3.
Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia.
Blood Adv
; 1(5): 319-329, 2017 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29296947
4.
Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence.
PLoS One
; 11(6): e0157739, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27355585